Mutación del gen BRAF V600E en el cáncer papilar de tiroides y su efecto en la terapia con yodo radiactivo (131I) posquirúrgica: ¿deberíamos modificar nuestra estrategia terapéutica?

Introduction

The BRAF V600E mutation in papillary thyroid cancer (PTC) has been associated with resistance to ¹³¹I. Our aim was to quantify the response to ¹³¹I after surgery in patients who had the mutation (BRAF+) and those who did not have the mutated gene (BRAF?).

Magnetic stimulation of the quadriceps: analysis of 2 stimulators used for diagnostic and therapeutic applications

Compromised muscle function can be evaluated in respiratory disease patients by supramaximal magnetic stimulation (isometric twitch) of the quadriceps, a technique that is reproducible and objective. We validated the technique, comparing a device used in our laboratory with another reference electromagnet. We also assessed whether the technique could potentially be used to train the muscle by repetitive stimulation. The Medtronic Magpro (MED) device with a circular coil and the Magstim 200 device (MAG) with a figure-of-eight coil (reference device) were used to stimulate the femoral nerve of 6 volunteers at different percentages of maximal output. MED stimulation was also applied on the quadriceps muscle. We measured voluntary contractions, comparing measurements from the 2 devices and on different days. The stimulation achieved with MED was lower than with MAG, showed greater day-to-day variability, and was not clearly supramaximal. MED quadriceps stimulation was 80.7% of MAG stimulation. In conclusion, supramaximal stimulation of the quadriceps cannot be guaranteed with MED and the circular coil. However, this device generates sufficient contraction when applied to the muscle to be used for repetitive stimulation.     

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well-known syndromes: Opitz–Kaveggia syndrome, Lujan–Fryns syndrome, or Ohdo syndrome. The identified variants were randomly distributed throughout the gene (p = 0.993, χ² test), but mostly outside the functional domains (p = 0.004; χ² test). Statistical analyses did not show a correlation between the MED12-related phenotypes and the locations of the variants (p = 0.295; Pearson correlation), nor the protein domain involved (p = 0.422; Pearson correlation). In conclusion, establishing a genotype–phenotype correlation in MED12-related diseases remains challenging. Therefore, we think that patients with a causative MED12 variant are currently underdiagnosed due to the broad patients' clinical presentations.     

Increased Serum Amyloid A Concentrations in Morbid Obesity Decrease after Gastric Bypass

Background: Obesity is considered a state of low-grade chronic inflammation, which may favor the development of cardiovascular diseases. Serum amyloid A (SAA) is an acute phase protein synthesized in response to infection, inflammation, injury, and stress. The aim of the present study was to compare the circulating concentrations of SAA and the mRNA expression in omental adipose tissue between lean and obese individuals and to analyze the effect of weight loss after gastric bypass. Methods: 16 lean volunteers (BMI 20.5 ± 0.6 kg/m²) and 24 obese patients (BMI 47.0 ± 1.2 kg/m²) were included in the study. Serum concentrations of SAA were measured by ELISA. In addition, the concentrations of SAA in 18 morbidly obese patients (7 male/11 female; BMI 44.6 ± 1.9 kg/m²) were measured before and after weight loss following Roux-en-Y gastric bypass (RYGBP). SAA expression in omental adipose tissue was quantified by RT-PCR in biopsies from obese patients undergoing RYGBP and from age-matched lean individuals subjected to Nissen fundoplication. Results: Obese patients exhibited significantly increased circulating SAA concentrations (6.6 ± 0.5 vs 39.3 ± 9.1 μg/ml; P<0.01) compared to lean subjects. A significant positive correlation was found between logSAA and body fat (r=0.631, P<0.0001). Obese patients showed significantly increased (P<0.05) mRNA expression of SAA in omental adipose tissue compared to lean subjects. Weight loss significantly decreased SAA concentrations after RYGBP (final BMI 28.5 ± 0.9 kg/m², P<0.0001 vs initial) from 47.5 ± 14.5 to 15.7 ± 2.9 μg/ml (P<0.05). Conclusion: It can be concluded that serum SAA and mRNA expression of SAA in omental adipose tissue are increased in obese patients contributing to the obesity-associated cardiovascular disease risk. Moreover, weight loss reduces SAA concentrations, which may contribute to the beneficial effects accompanying weight reduction.     

Altered Peptidase Activities in Thyroid Neoplasia and Hyperplasia

Background. Papillary thyroid carcinoma (PTC), follicular thyroid adenoma (FTA), and thyroid nodular hyperplasia (TNH) are the most frequent diseases of the thyroid gland. Previous studies described the involvement of dipeptidyl-peptidase IV (DPPIV/CD26) in the development of thyroid neoplasia and proposed it as an additional tool in the diagnosis/prognosis of these diseases. However, very little is known about the involvement of other peptidases in neoplastic and hyperplastic processes of this gland. Methods. The catalytic activity of 10 peptidases in a series of 30 PTC, 10 FTA, and 14 TNH was measured fluorimetrically in tumour and nontumour adjacent tissues. Results. The activity of DPPIV/CD26 was markedly higher in PTC than in FTA, TNH, and nontumour tissues. Aspartyl aminopeptidase (AspAP), alanyl aminopeptidase (AlaAP), prolyl endopeptidase, pyroglutamyl peptidase I, and aminopeptidase B activities were significantly increased in thyroid neoplasms when compared to nontumour tissues. AspAP and AlaAP activities were also significantly higher in PTC than in FTA and TNH. Conclusions. These data suggest the involvement of DPPIV/CD26 and some cytosolic peptidases in the neoplastic development of PTC and FTA. Further studies will help to define the possible clinical usefulness of AlaAP and AspAP in the diagnosis/prognosis of thyroid neoplasms.     

Internal migration in Spain in the 20th century: a new focus for the study of social inequalities in health

Objective

Catalonia and the Basque Country received substantial immigration quotas from the rest of Spain during the twentieth century. This study aimed to analyze inequalities in health by birthplace (the population born in the same region or other autonomous regions) in these two geographical areas.

Methods

We conducted a cross-sectional study in the non-institutionalized population aged 50 to 79 years, with data from the health surveys of Catalonia 2006 (n = 5,483) and the Basque Country 2007 (n = 3,424). We used log-binomial models to estimate the prevalence ratios (PR) of poor self-rated health by birthplace, stratified by sex and social class, and successively adjusted for age, social class and educational attainment.

Results

Immigrants from other autonomous regions had poorer self-rated health than the native-born population, both in the Basque Country (age-adjusted PR in men 1.30, 95% CI 1.11-1.54; women 1.42, 95% CI 1.25-1.62,) and in Catalonia (PR in men 1.41, 95% CI 1.26-1.62; PR in women 1.25, 95% CI 1.16-1.35). PRs were reduced but remained significant after adjustment for social class and educational attainment and stratification by manual or non-manual social class.

Conclusions

In both communities there are health inequalities that are detrimental to the immigrant population from the rest of Spain, which constitutes approximately half of the population in the studied age cohorts. Future studies should explore the persistence of these inequalities in other health indicators and their reproduction in second generations, and identify entry points for preventive policies.